CASK
Summary: This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:300172 Ensembl IDEnsembl:ENSG00000147044 HGNC IDHGNC:HGNC:1497 PHARMGKB IDPA26081 Map LocationXp11.4 | |||||
GO terms in CASK
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005604 | basement membrane |
| CC | IDA | GO:0005604 | basement membrane |
| CC | IDA | GO:0005652 | nuclear lamina |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
Gene expression in normal tissue: CASK
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CASK
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112310 | Neurotransmitter release cycle |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1500931 | Cell-Cell communication |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CASK
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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